Zobrazeno 1 - 10
of 161
pro vyhledávání: '"N, Sakati"'
Publikováno v:
Jurnal Kesmas Untika Luwuk : Public Health Journal. 12
Tantangan yang dihadapi Indonesia terkait pembangunan kesehatan khususnya bidang higiene dan sanitasi masih sangat besar, untuk itu perlu dilakukan intervensi terpadu melalui pendekatan sanitasi total. Tujuan penelitian ini adalah memperoleh gambaran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::450d2269b7038e33049e2e534b1353a6
https://doi.org/10.51888/phj.v12i2.67
https://doi.org/10.51888/phj.v12i2.67
Publikováno v:
Eastern Mediterranean Health Journal. 5:1218-1224
Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization [FISH]is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3abee404c2803e6f0b190959e792e198
https://doi.org/10.26719/1999.5.6.1218
https://doi.org/10.26719/1999.5.6.1218
Publikováno v:
BJU International. 79:785-789
Objective To review the results of gender reversal in six patients with 46XX congenital virilizing adrenal hyperplasia (CVAH). Patients and methods Fifty-one patients with 46XX CVAH were seen in an 8 year period; 45 were managed by conventional femin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2186e2211ab252445a23159971e55a2e
https://doi.org/10.1046/j.1464-410x.1997.00127.x
https://doi.org/10.1046/j.1464-410x.1997.00127.x
Autor:
Abdullah S. Al-Herbish, A. Al-Ashwal, Abdullah M. Abo-Bakr, N. Sakati, A. Al-Rabeeah, Nasser A. M. Al-Jurayyan
Publikováno v:
Journal of Pediatric Surgery. 30:1119-1121
Twenty-eight infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) were seen during a 10-year period. There were 13 males and 15 females. Their age at time of presentation ranged from a few hours to 6 months. Consanguinity was repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425ecf24f97acb76b19f34885df0faac
https://doi.org/10.1016/0022-3468(95)90001-2
https://doi.org/10.1016/0022-3468(95)90001-2
Publikováno v:
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 5(6)
Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization (FISH) is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b04b38508367ca3d1ee28a8dfacdc83c
https://pubmed.ncbi.nlm.nih.gov/11924115
https://pubmed.ncbi.nlm.nih.gov/11924115
Autor:
E, Al-Jishi, B F, Meyer, M S, Rashed, M, Al-Essa, M H, Al-Hamed, N, Sakati, S, Sanjad, P T, Ozand, M, Kambouris
Publikováno v:
Clinical genetics. 55(6)
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12e02eedbe83a01d20bfa2733c4448e8
https://pubmed.ncbi.nlm.nih.gov/10450861
https://pubmed.ncbi.nlm.nih.gov/10450861
Publikováno v:
American journal of medical genetics. 85(1)
The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::549b04c65395328f87f0f0985ddafe72
https://pubmed.ncbi.nlm.nih.gov/10377012
https://pubmed.ncbi.nlm.nih.gov/10377012
Autor:
J, Wojcik, M A, Berg, N, Esposito, M E, Geffner, N, Sakati, E O, Reiter, S, Dower, U, Francke, M C, Postel-Vinay, J, Finidori
Publikováno v:
The Journal of clinical endocrinology and metabolism. 83(12)
We have analyzed the GH receptor (GHR) gene in four individuals with Laron syndrome, and a missense mutation was identified for each patient in the extracellular domain of the GHR (D152H, I153T, Q154P, and V155G). The D152H mutation was previously re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::abf9bbec97e923cd2a57b551fdc64152
https://pubmed.ncbi.nlm.nih.gov/9851797
https://pubmed.ncbi.nlm.nih.gov/9851797
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 87(1)
The aim of this report is to describe four cases of non-autoimmune diabetes that presented in infancy. Three had transient neonatal diabetes mellitus (TNDM) with diabetic ketoacidosis at onset, followed by complete remission after several months of i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4449ca7fa8731b77a548e98a52a420d
https://pubmed.ncbi.nlm.nih.gov/9510456
https://pubmed.ncbi.nlm.nih.gov/9510456
Autor:
N. Sakati, M. Bissada, Ahmed S. Safwat, Nabil K. Bissada, Richard J. Jackson, Ahmed El-Zawahry
Publikováno v:
Urology. 68:155-156
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc34f8f2ed65f3da86e95166779ef577
https://doi.org/10.1016/j.urology.2006.08.387
https://doi.org/10.1016/j.urology.2006.08.387